Irish ancestry focus of Tay-Sachs families

A Philadelphia doctor is trying to determine how prevalent Tay-Sachs is in the Irish community.

Dr. Adele Schneider, director of Einstein Medical Center’s clinical genetics, is leading a study to determine whether carrier screening should be recommended for anyone of Irish descent. The goal of the study is to determine how high the carrier rate of the disease is in people of Irish descent.

Tay-Sachs Disease is a fatal disease that is passed on to children when both parents are carriers of the gene mutation.

While children born with the disease may appear normal when born, but symptoms of the disease will appear when the child is about four to six months old. They begin to lose growth skills, like sitting up or rolling over, which will progress to loss of sight, hearing, and ability to swallow. Children diagnosed with the disease usually die by five years old.

“It’s devastating,” said Schneider.

Historically, the disease has been prevalent in Jewish populations, however Dr. Schneider recently noted an increasing prevalence of the disease in Irish populations, such as with the Manning and Harney families of Chester County.

Kathryn Harney, whose son, Nathan, was diagnosed with Tay-Sachs Disease when he was 10 months old, said that had she known that she and her husband could have been carriers, they would have gotten screened.

“I wish we would have known earlier, but I’m glad we know now,” said Kathryn, a resident of Downingtown. “I mean, it is what it is. We can’t change it but I’m just glad we got a diagnosis and that we can be part of making sure that this stops.”

Kathryn and her husband Aaron encouraged their relatives to get tested, and two of Kathryn’s sisters were found to be carriers. The Harneys are trying to raise awareness about the research being led by Schneider and Einstein Medical.

Schneider said that after hearing about Nathan’s diagnosis, along with that of two other Irish children, she became aware for the need of information about Tay-Sachs Disease in Irish populations. Of those three children, only Nathan is still alive.

“There is no good literature with a good carrier rate for Tay-Sachs in the Irish,” said Schneider. “As a consequence, there is no guideline for doctors to screen pregnant women for the Tay-Sachs if they’re Irish.”

The study is testing 1,000 adults who have at least three Irish grandparents to determine a dependable carrier rate for the disease. The carrier screening test is free to eligible participants. The study is funded through the National Tay-Sachs & Allied Diseases Association of Delaware Valley.

“It’s an easy test to do,” said Schneider. “It’s a little blood test. Everybody who gets the test gets genetic counseling first and there’s an informed consent.”

According to Amybeth Weaver, a genetic counselor for Einstein Medical, the technology for screening for the disease has improved in recent years.

Sheri Manning was mother to Dylan James, who was diagnosed at 17 months, and died at the age of 4, in August 2006.

“(After diagnosis) I felt like a part of me was dying, too,” said Sherri. “You do need to know the risk of having a child if you are a carrier.”

She encouraged her family members to get tested once Schneider began her study. Both Sherri and her husband have one sibling who is also a carrier, as is Sherri’s father.

“It’s extremely difficult to watch your son fade away without being able to do anything,” said Sherri. “We look at the day he died as one of the most devastating days. He never walked, he never talked. It’s like every day was different, we were losing bit by bit.”

Sherri also said that Dylan died in her arms after no longer being able to sustain his food.

“After he took his last breath, he gave me the biggest smile in the world, and that’s stayed with me,” said Sherri. “It helps me cope because I know he’s with God.”

Sherri and her family still raise awareness about Tay-Sachs in their community, giving out wristbands and information about the disease.

“We do it in honor of him, and in memory of him.”

Schneider and some of her co-workers are also trying to educate the general public about the disease, by participating in Philadelphia’s Irish Festival in 2012, as well as at other community events, and are planning to continue to reach out through events in Philadelphia area.

“We’re trying to perhaps use some of the other (ancestry) Irish groups just to reach the people that would qualify for the study,” said Weaver.

For anyone seeking further information about the study, to inquire about getting tested, or for groups interested in partnering with the study to further educate the public, call 215-887-0877, or email at irish@tay-sachs.org.